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This study examines the clinical variability and ethno-demographic differences of oral clefts in Pakistan.

April 23, 2026FACE1 citations

Demographic and Clinical Spectrum of Oral Clefts in a Clinical Cohort: A Focus on Phenotypic Heterogeneity and Sociodemographic Correlates

ASAyesha SiddiquiQuaid-i-Azam University NFNoureen Ghulam FatimaQuaid-i-Azam University SKSamman KhalidHoly Family Hospital

Key Points

This study examines the clinical variability and ethno-demographic differences of oral clefts in Pakistan.
Conducted an observational, multicenter, cross-sectional study from 2020 to 2023.
Recruited patients with oral clefts from tertiary hospitals, surgical camps, and rural communities.
Applied descriptive statistics and logistic regression to assess demographic associations.
303 patients enrolled, with a male predominance of 55%.
Cleft lip and palate was the most common presentation (53%), with unilateral forms being predominantly left-sided (62%).
Significant variation in cleft distribution observed across socio-demographic subgroups, notably with 64% having parental consanguinity.

Abstract

Introduction: Cleft lip and/or palate (CL/P) is among the most common congenital anomalies globally. Pakistan has one of the highest incidences of CL/P worldwide. This study aims to investigate the clinical variability and ethno-demographic disparities of CL/P in the Islamabad and Upper Punjab region of Pakistan. Methods: An observational, multicenter, cross-sectional study was conducted from 2020 to 2023. Patients with CL/P were recruited from tertiary hospitals, surgical camps, and rural communities. Clinical classification and demographic profiling were performed. Descriptive statistics summarized sample characteristics, and logistic regression was applied to assess associations with demographic variables. Results: A total of 303 patients were enrolled, with a male predominance (55%). The most frequent presentation was cleft lip and palate (CLP, 53%), followed by cleft palate (CP, 28%) and cleft lip (CL, 19%). Complete clefts were more common (67%), and unilateral forms (74%) were predominantly left-sided (62%). Sporadic cases comprised 79%, while parental consanguinity was reported in 64% of the sample. First-parity births accounted for 35%, and isolated clefts were observed in 48%. Syndromic associations (52%) were primarily neurological, sensorineural, and limb anomalies. Most patients were from rural areas (69%), Punjab province (53%), Punjabi-speaking households (40%), and low socioeconomic strata (50%). Significant variation in cleft distribution was observed across demographic subgroups. Conclusion: CL/P in this region exhibits high clinical heterogeneity and striking ethno-demographic disparities, reflecting the interplay of genetic, environmental, and socioeconomic factors. These findings highlight the need for targeted interventions in resource-limited settings, emphasizing the organization of surgical cleft camps in rural areas, the involvement of Non-Governmental Organizations (NGOs) supporting cleft care, and the promotion of health education in communities with high consanguinity and socioeconomic vulnerability.

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